Get connected with genetics experts, so you and your family can find answers.
Genetic testing can help find the root cause of health concerns—especially for symptoms that can be caused by many different conditions. Exome testing looks at over 20,000 genes at once, making it one of the fastest ways for your healthcare provider to diagnose a specific condition or develop a more effective care plan.
Yet for some children and their families, it can be difficult to find a local genetics expert who can discuss your concerns, provide information on how exome testing can help and, if appropriate, order the test.
GeneDx believes that everyone seeking a genetic diagnosis deserves answers. That’s why we partnered with Genome Medical, a leading genetic counseling services company, to connect families in need of a diagnosis with genetics providers who can offer access to exome testing.
Exome sequencing is recommended as a first-line genetic test for children with:
The following can also be caused by a genetic condition. You may want to discuss these with your Genome Medical genetic counselor:
The GeneDx and Genome Medical program includes two separate components, with two separate billing policies. Pre-and post-test genetic counseling and test ordering is performed by Genome Medical, while the laboratory testing and analysis is performed by GeneDx.
Genome Medical genetic counseling
Genome Medical’s genetic counselors are healthcare professionals trained in medical genetics and counseling, and skilled at communicating the complexities of genetic testing in a way that’s easy to understand.
They will meet with you before any testing is ordered to evaluate your child’s medical history and determine the most appropriate testing plan. If appropriate and desired, Genome Medical will place the order for your child’s exome test.
After you receive your test results, you can meet again with a genetic counselor to discuss what they mean for your family.
Note: In some cases, exome testing will not be the right test. Your genetic counselor will discuss the best options for your child.
How much does it cost?
Each genetic counseling appointment is billed separately. Visit Genome Medical’s page on insurance coverage to find out how they work with different insurance providers as well as for details on self-pay options.
GeneDx exome testing
Based on your child’s medical history, exome testing may be recommended. Exome testing looks at all the pieces of DNA that tell our bodies how to make proteins, which are important for our body to function properly. This may help provide a genetic diagnosis or identify a more effective care plan in a shorter amount of time.
How much does it cost?
GeneDx accepts all commercial insurance, Medicaid, Medicare, and Tricare plans. We also offer competitive self-pay pricing, interest free payment plans and, for eligible patients, a Financial Assistance Program.
Additionally, for patients with epilepsy who qualify for GeneDx’s Epilepsy Partnership Program, denial of an insurance claim or lack of insurance coverage does not impact the ability to access recommended testing.
Please contact your insurance provider for your exact coverage and payment responsibility.
Pre-test genetic counseling
In an initial phone consultation with a genetic counselor from Genome Medical, you will discuss your child’s medical and family history and learn how testing can look for a genetic cause.
Sample collection and testing
If you decide to proceed with the recommended genetic testing, Genome Medical will order your test, and a cheek swab sample collection kit will be mailed directly to you. After collecting the sample, simply send it to GeneDx for testing.
Results available
When your results are ready (about 5 weeks from when GeneDx receives your sample), Genome Medical will share your test report with you through their online portal.
Post-test genetic counseling
With your Genome Medical genetic counselor, you can discuss the results and what they mean for your child. You’ll receive a written summary and guidance on next steps. You can also share your results and guidance with your other medical providers.
Schedule an appointment to start working with a certified genetic counselor and receive expert consultation on testing, all from the comfort of your own home.
Get started nowChoosing exome sequencing can shorten the journey to a diagnosis, helping your healthcare provider diagnose a specific disorder or develop a more effective care plan, faster.
What’s more, the American College of Medical Genetics and Genomics recommends exome or genome as a first-line test for developmental delay, intellectual disability, and congenital anomalies.2
And the National Society of Genetic Counselors recommends exome or genome sequencing for all individuals with unexplained epilepsy. This guideline is endorsed by the American Epilepsy Society.1
Other symptoms to discuss with a genetics expert
The following can also be caused by a genetic condition. You may want to discuss these with your genetic counselor:
Note: In some cases, exome testing will not be the right clinical approach. Your Genome Medical genetic counselor will discuss the best options for you.
Yes, at this time, this program is limited to individuals residing in the United States.
A genetic counselor is a healthcare professional trained in medical genetics and counseling, and skilled at explaining genetic testing in a way that’s easy to understand. During a genetic counseling session with Genome Medical, the genetic counselor may:
Step 1: Collect your sample(s)
If an exome test is right for your child, you will receive a collection kit in the mail. Inside you will find everything you need to collect the DNA sample using an oral cheek swab (also known as a buccal swab) and send it back to the GeneDx lab for analysis.
If your Genome Medical genetic counselor recommends duo or trio testing (comparing the DNA of two or three biologically related family members), your family members will also receive kit boxes. Please be sure that all family members send their kits back to GeneDx quickly, as testing cannot begin until all samples arrive.
Step 2: GeneDx analyzes your child’s DNA
GeneDx receives your child’s sample, the DNA is analyzed with the most up to-date technology to identify if there are any genetic changes that might explain your child’s symptoms. Next, your results are interpreted by our team of genetics experts, who write your personalized report.
Step 3: You receive your results
The test report is delivered to Genome Medical; they will share the results with you in your Genome Medical Portal. You can schedule a follow up appointment to discuss your results with your genetic counselor. Additionally, you can share the results with your other healthcare providers.
Genetic testing can deliver three types of results:
The exact information found in an exome report will vary, although results will typically contain details like:
When someone receives exome or genome testing, genetic changes may also be identified that are unrelated to the reason for testing. These are known as “secondary findings.”
The American College of Medical Genetics and Genomics (ACMG) has created a list of specific “secondary findings” genes known to be associated with health conditions for which medical screening and/or treatments are available. Most conditions on this list can increase the chances of developing certain cancers or heart conditions, or change the way your body breaks down, stores, and uses different substances (called metabolic conditions). Certain conditions, such as Alzheimer’s or Huntington disease, are not included.
Exome or genome testing identifies secondary findings in approximately 2% to 3% of people.3-5 This means that testing does not identify a secondary finding in 97% to 98% of people.
Secondary findings are optional to receive. Before testing, talk to your Genome Medical genetic counselor about whether you would like to receive results of secondary findings.
When choosing to pursue genetic testing for your child, you must provide informed consent. This means that you have been educated about the benefits, risks, and limitations of genetic testing and agree to move forward. GeneDx’s consent also covers the options for secondary findings and being contacted in the future for research purposes.
Click here to view GeneDx’s informed consent form, as well as additional information about options for future contact, use of de-identified data, and specimen retention.
References: 1. Smith L, Malinowski J, Ceulemans S, et al. J Genet Couns. 2022 Oct 24. Doi.org/10.1002/jgc4.1646. 2. Manickam K, McClain MR, Demmer LA, et al. Genet Med. 2021;23(11):2029-2037. doi: 10.1038/s41436-021-01242. 3. Katz AE et al. Am J Hum Genet. 2020 Jul 2;107(1):3-14. 4. Schwartz MLB, et al. Am J Hum Genet. 2018 Sep 6;103(3):328-337. 5. Internal data.
